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Multiregion whole-genome sequencing depicts intratumour heterogeneity and punctuated evolution in ovarian clear cell carcinoma
Background Ovarian clear cell carcinoma (OCCC) arises from endometriosis and represents a difficult-to-treat gynaecological malignancy, in part, because its spatial intratumour heterogeneity and ...
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Fetal akinesia: review of the genetics of the neuromuscular causes
3 Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, New South Wales, Australia ...
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Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?
1 Department of Medical Genetics & UMR-INERIS, Centre Hospitalo-Universitaire et Faculté de Médecine, Amiens, France 2 Department of Hepato-Gastroenterologie, Centre Hospitalo-Universitaire et Faculté ...
jmg.bmj1d
Digenic inheritance in medical genetics
Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases. By contrast with the thousands of reports that mutations in single genes cause human diseases, there are ...
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Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations
1 Department of Pediatric Radiology, Hôpital Necker-Enfants Malades and Inserm U781 and U1000, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France 2 Department of Genetic ...
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Watson syndrome: is it a subtype of type 1 neurofibromatosis?
Over 20 years ago, Watson described three families with a condition characterised by pulmonary valvular stenosis, café au lait patches, and dull intelligence. Short stature is an additional feature of ...
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TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents
Introduction TMEM16A is a calcium-activated chloride channel expressed in various secretory epithelia. Two siblings presented in early infancy with reduced intestinal peristalsis and recurrent ...
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Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
Correspondence to Dr Hidenobu Soejima, Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Saga University Faculty of Medicine, Saga 849-8501, Japan; soejimah{at}cc.saga ...
jmg.bmj5d
Frequent hypomorphic alleles account for a significant fraction of ABCA4 disease and distinguish it from age-related macular degeneration
Correspondence to Dr Rando Allikmets, Department of Ophthalmology, Columbia University, Edward S. Harkness Eye Institute Research Annex, 635 West 165th Street, Box # 28, New York, NY 10032, USA; rla22 ...
jmg.bmj5d
Improving the clinical interpretation of missense variants in X linked genes using structural analysis
Background Improving the clinical interpretation of missense variants can increase the diagnostic yield of genomic testing and lead to personalised management strategies. Currently, due to the ...